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Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … Cri …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … so she needed a feeding tube. We were stumped, but put her genetic information on a website, along with a brief …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and … and decreasing oxygen delivery. Little is known about why the severity of these symptoms varies throughout the course … by SCD to find the factors - environmental, social and genetic - that impact the severity of symptoms. They hope to …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … Leading scientists across scientific institutions in the 19th and early 20th centuries were proponents of such …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… Dominant Disorder … Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases. … Trait, Inherit, Genetic Diseases, Chromosomes, …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies … Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding Reliable Health …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … … Trisomy 21) is a genetic condition caused by an error in the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of … of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Benowitz … Six new grants from the National Institutes of Health (NIH) will support researchers to develop new … of many people suggests that there are tens of millions of genetic variants, or DNA spelling differences. For the last … (GWAS) to find regions of the genome associated with diseases and traits. In GWAS, the genomes of thousands of …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
… Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate … untreated, it can lead to severe organ damage. Caucasians of northern European descent are at highest risk. An … heart, pancreas, joints and pituitary gland, leading to diseases such as cirrhosis of the liver, liver cancer, …